Annotation Detail
Information
- Associated Genes
- UGT1A1
- Associated Variants
-
UGT1A1 MUTATION
UGT1A1 MUTATION - Associated Disease
- Unconjugated hyperbilirubinemia
- Source Database
- DisGeNET
- Description
- The enzyme uridine diphosphate glucuronosyltransferase polypeptide 1A1 (UGT1A1) is solely responsible for clearing bilirubin from the blood and homozygosity for seven thymine-adenine (TA) repeats in the TATA box regulatory element of the UGT1A1 gene underlies a mild hereditary unconjugated hyperbilirubinaemia (Gilbert's syndrome).
- Pubmed
- 25086287
- Section of the abstract supporting the evidence
- BACKGROUND & AIMS
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0100433492669712
Drugs